Canonical Allele Identifier: CA361840920

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 487340
• ClinVar RCV Id: RCV000576251
• dbSNP Id: rs762864856
• gnomAD v4: 5-151856384-C-T
• MyVariant Identifiers: chr5:g.151235945C>T (hg19) ; chr5:g.151856384C>T (hg38)
• PubMed: PMID:28879899

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151856384C>T , CM000667.2:g.151856384C>T	GRCh38
NC_000005.9:g.151235945C>T , CM000667.1:g.151235945C>T	GRCh37
NC_000005.8:g.151216138C>T	NCBI36
NG_011764.1:g.73453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.477-1G>A MANE Select	ENSP00000274576.5:n.477-1G>A
ENST00000274576.8:c.477-1G>A	ENSP00000274576.4:n.477-1G>A
ENST00000455880.2:c.477-1G>A	ENSP00000411593.2:n.477-1G>A
ENST00000462581.6:c.*235-1G>A	ENSP00000430595.1:n.*235-1G>A
ENST00000471351.2:n.760-1G>A
NM_000171.3:c.477-1G>A	NP_000162.2:n.477-1G>A
NM_001146040.1:c.477-1G>A	NP_001139512.1:n.477-1G>A
NM_001292000.1:c.228-1G>A	NP_001278929.1:n.228-1G>A
XM_005268412.2:c.477-1G>A	XP_005268469.1:n.477-1G>A
XR_002956230.1:n.42-1322C>T
NM_000171.4:c.477-1G>A MANE Select	NP_000162.2:n.477-1G>A
NM_001146040.2:c.477-1G>A	NP_001139512.1:n.477-1G>A
NM_001292000.2:c.228-1G>A	NP_001278929.1:n.228-1G>A